Canonical Allele Identifier: CA2558043456

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907891_44907892insTAGAGGGGGG , CM000679.2:g.44907891_44907892insTAGAGGGGGG	GRCh38
NC_000017.10:g.42985259_42985260insTAGAGGGGGG , CM000679.1:g.42985259_42985260insTAGAGGGGGG	GRCh37
NC_000017.9:g.40340785_40340786insTAGAGGGGGG	NCBI36
NG_008401.1:g.12655_12656insCCCCCCTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+172_1377+173insCCCCCCTCTA	ENSP00000253408.5:n.1377+172_1377+173insCCCCCCTCTA
ENST00000253408.10:c.1377+172_1377+173insCCCCCCTCTA	ENSP00000253408.5:n.1377+172_1377+173insCCCCCCTCTA
ENST00000441312.2:n.110+172_110+173insCCCCCCTCTA
ENST00000585543.6:n.410+172_410+173insCCCCCCTCTA
ENST00000586125.2:c.364_365insCCCCCCTCTA	ENSP00000467397.2:p.Val122AlafsTer?
ENST00000588735.3:c.1257+172_1257+173insCCCCCCTCTA MANE Select	ENSP00000466598.2:n.1257+172_1257+173insCCCCCCTCTA
ENST00000589701.2:n.2164+172_2164+173insCCCCCCTCTA
ENST00000591880.2:c.528_529insCCCCCCTCTA
ENST00000592065.2:n.625+172_625+173insCCCCCCTCTA
ENST00000638304.1:c.176+172_176+173insCCCCCCTCTA
ENST00000638400.1:c.92+172_92+173insCCCCCCTCTA
ENST00000638488.1:n.721+172_721+173insCCCCCCTCTA
ENST00000638618.1:c.912+172_912+173insCCCCCCTCTA	ENSP00000492832.1:n.912+172_912+173insCCCCCCTCTA
ENST00000638921.1:n.356_357insCCCCCCTCTA
ENST00000639042.1:c.229+172_229+173insCCCCCCTCTA
ENST00000639243.1:c.13+172_13+173insCCCCCCTCTA
ENST00000639277.1:c.1257+172_1257+173insCCCCCCTCTA	ENSP00000492432.1:n.1257+172_1257+173insCCCCCCTCTA
ENST00000639369.1:c.107+172_107+173insCCCCCCTCTA
ENST00000640545.1:c.63+172_63+173insCCCCCCTCTA	ENSP00000491735.1:n.63+172_63+173insCCCCCCTCTA
ENST00000640859.1:c.71+172_71+173insCCCCCCTCTA
ENST00000253408.9:c.1257+172_1257+173insCCCCCCTCTA	ENSP00000253408.4:n.1257+172_1257+173insCCCCCCTCTA
ENST00000585543.5:n.410+172_410+173insCCCCCCTCTA
ENST00000588735.1:c.135+172_135+173insCCCCCCTCTA	ENSP00000466598.1:n.135+172_135+173insCCCCCCTCTA
ENST00000589701.1:n.159+172_159+173insCCCCCCTCTA
ENST00000591880.1:c.295_296insCCCCCCTCTA	ENSP00000467530.1:p.Val99AlafsTer?
ENST00000592065.1:n.51+172_51+173insCCCCCCTCTA
ENST00000592706.5:n.129+172_129+173insCCCCCCTCTA
NM_002055.4:c.1257+172_1257+173insCCCCCCTCTA	NP_002046.1:n.1257+172_1257+173insCCCCCCTCTA
NM_001363846.1:c.1377+172_1377+173insCCCCCCTCTA	NP_001350775.1:n.1377+172_1377+173insCCCCCCTCTA
XM_024450690.1:c.1581+172_1581+173insCCCCCCTCTA	XP_024306458.1:n.1581+172_1581+173insCCCCCCTCTA
XM_024450692.1:c.1461+172_1461+173insCCCCCCTCTA	XP_024306460.1:n.1461+172_1461+173insCCCCCCTCTA
NM_002055.5:c.1257+172_1257+173insCCCCCCTCTA MANE Select	NP_002046.1:n.1257+172_1257+173insCCCCCCTCTA
NM_001363846.2:c.1377+172_1377+173insCCCCCCTCTA	NP_001350775.1:n.1377+172_1377+173insCCCCCCTCTA